rs2149851 chr13:30371784 T>C
- Sequence
gtctcctggcagtttcttgggcca[T/C]gtgacataaccgccaggttatact
- ASB in cell types
- GM12878 (female B-cells lymphoblastoid cell line) GM02630 (Fanconi anemi) Jurkat (T-cells) germinal center B-cells
- ASB for transcription factors
- CTCF_HUMAN IKZF1_HUMAN EP300_HUMAN COT1_HUMAN
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-log10 FDR of Ref (T) ASB
-log10 FDR of Alt (C) ASB
Details
Transcription factors
Cell types
Uniprot ID | Effect size Ref | Effect size Alt | FDR Ref | FDR Alt | Mean BAD | Motif fold change | Motif concordance | |
|---|---|---|---|---|---|---|---|---|
| CTCF_HUMAN | 1.63 | 0.37 | 1.14 | n/a | No Hit | |||
| IKZF1_HUMAN | 0.91 | -0.11 | 1.40 | n/a | n/a | |||
| EP300_HUMAN | 1.89 | -0.42 | 1.33 | n/a | n/a | |||
| COT1_HUMAN | 0.99 | -0.99 | 1.00 | n/a | No Hit | |||
| USF2_HUMAN | 2.36 | -4.04 | 1.50 | 3.63 | Discordant |
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Motif analysis
Genetic associations
GRASP fasting blood glucose, homa-b, irritible bowel syndrome, microalbuminuria, neuroticism, tardive dyskinesia, triglycerides change with statins, urinary albumin-to-creatinine ratio
GTEx eQTL Brain_Caudate_basal_ganglia, Brain_Cortex, Brain_Frontal_Cortex_BA9, Colon_Transverse, Heart_Left_Ventricle, Nerve_Tibial, Small_Intestine_Terminal_Ileum, Thyroid